rs1057519660
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ACGAGGAAAACTG) | 5 | Familial Hypercholesterolemia |
(ACGAGGAAAACTG;ACGAGGAAAACTG) | 0 | common/normal |
(CTGACGAGGAAAA;CTGACGAGGAAAA) | 0 | common in clinvar |
Chromosome | 19 |
Position | 11105586 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs1057519660 |
dbSNP (classic) | rs1057519660 |
ClinGen | rs1057519660 |
ebi | rs1057519660 |
HLI | rs1057519660 |
Exac | rs1057519660 |
Gnomad | rs1057519660 |
Varsome | rs1057519660 |
LitVar | rs1057519660 |
Map | rs1057519660 |
PheGenI | rs1057519660 |
Biobank | rs1057519660 |
1000 genomes | rs1057519660 |
hgdp | rs1057519660 |
ensembl | rs1057519660 |
geneview | rs1057519660 |
scholar | rs1057519660 |
rs1057519660 | |
pharmgkb | rs1057519660 |
gwascentral | rs1057519660 |
openSNP | rs1057519660 |
23andMe | rs1057519660 |
SNPshot | rs1057519660 |
SNPdbe | rs1057519660 |
MSV3d | rs1057519660 |
GWAS Ctlg | rs1057519660 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs1057519660(-;-) |
Alt | rs1057519660(-;-) |
Reference | Rs1057519660(CTGACGAGGAAAA;CTGACGAGGAAAA) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11216262_11216274delACGAGGAAAACTG |
CLNSRC | |
CLNACC | RCV000417298.1, |